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Gγ-158C突变及β-(AT)x(T)y珠蛋白基因多态性对意大利β地中海贫血携带者和野生型受试者HbF水平的影响。

Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects.

作者信息

Guida Valentina, Cappabianca Mara Pia, Colosimo Alessia, Rafanelli Francesca, Amato Antonio, Dallapiccola Bruno

出版信息

Haematologica. 2006 Sep;91(9):1275-6.

PMID:16956833
Abstract

Clinical manifestations of beta-thalassemia (beta-thal) intermedia phenotypes are influenced by the persistence of fetal hemoglobin (HbF) and by several polymorphisms located in the promoters of A- and beta-globin genes. The aim of this study was to evaluate the distribution of the -158Ggamma (C-->T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with elevated levels of HbF in 188 beta-thal carriers and 229 wild-type individuals of Italian descent. The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects.

摘要

β-地中海贫血（β-地贫）中间型表型的临床表现受胎儿血红蛋白（HbF）的持续存在以及位于α-和β-珠蛋白基因启动子中的几种多态性影响。本研究的目的是评估-158Gγ（C→T）多态性和（AT）x（T）y构型的分布，以及它们与188名β-地贫携带者和229名意大利裔野生型个体中HbF水平升高的最终关联。发现-158GγT和（AT）9（T）5等位基因与β-地贫携带者中HbF水平升高相关，但在野生型受试者中并非如此。

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